Mutagenetix > Incidental Mutations

Incidental Mutation 'R0332:Gpatch8'

35938

Institutional Source

Beutler Lab

Gene Symbol

Gpatch8

Ensembl Gene

ENSMUSG00000034621

Gene Name

G patch domain containing 8

Synonyms

ENSMUSG00000075516, Fbm1, 5430405G24Rik, Gpatc8

MMRRC Submission

038541-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.515) question?

Stock #

R0332 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

102475915-102556392 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 102481842 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 290 (N290S)

Ref Sequence

ENSEMBL: ENSMUSP00000120649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000143842]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000069673

Predicted Effect

unknown
Transcript: ENSMUST00000143842
AA Change: N290S

SMART Domains

Protein: ENSMUSP00000120649
Gene: ENSMUSG00000034621
AA Change: N290S

Domain	Start	End	E-Value	Type
G_patch	38	84	6.03e-12	SMART
coiled coil region	89	130	N/A	INTRINSIC
ZnF_C2H2	136	160	6.4e0	SMART
coiled coil region	183	209	N/A	INTRINSIC
low complexity region	224	234	N/A	INTRINSIC
low complexity region	235	246	N/A	INTRINSIC
internal_repeat_1	307	391	1.55e-5	PROSPERO
low complexity region	474	490	N/A	INTRINSIC
internal_repeat_1	583	658	1.55e-5	PROSPERO
low complexity region	666	687	N/A	INTRINSIC
low complexity region	691	720	N/A	INTRINSIC
low complexity region	722	753	N/A	INTRINSIC
low complexity region	761	772	N/A	INTRINSIC
low complexity region	798	820	N/A	INTRINSIC
low complexity region	829	885	N/A	INTRINSIC
low complexity region	887	980	N/A	INTRINSIC
low complexity region	988	1010	N/A	INTRINSIC
low complexity region	1166	1183	N/A	INTRINSIC
low complexity region	1208	1217	N/A	INTRINSIC
low complexity region	1326	1342	N/A	INTRINSIC
low complexity region	1345	1361	N/A	INTRINSIC
low complexity region	1379	1404	N/A	INTRINSIC
low complexity region	1438	1452	N/A	INTRINSIC
low complexity region	1463	1490	N/A	INTRINSIC

Meta Mutation Damage Score

0.074

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	T	17: 23,714,604		probably benign	Het
Aggf1	T	C	13: 95,369,446	E211G	probably damaging	Het
Aox3	A	G	1: 58,142,751	N299S	probably benign	Het
Arhgef7	T	A	8: 11,824,701	Y777*	probably null	Het
Atad1	A	G	19: 32,702,534		probably benign	Het
Bop1	A	G	15: 76,455,987	Y130H	probably damaging	Het
Ccar2	G	T	14: 70,141,935		probably benign	Het
Ccdc110	G	T	8: 45,942,964	E631*	probably null	Het
Cfap54	C	T	10: 93,035,457	D634N	probably damaging	Het
Cldn8	C	T	16: 88,562,358		silent	Het
Cstf3	G	T	2: 104,646,467		probably null	Het
Dgkq	T	C	5: 108,655,099		probably benign	Het
Dsp	T	A	13: 38,182,228	L546*	probably null	Het
Eif3g	A	T	9: 20,897,984		probably benign	Het
Fam228a	T	A	12: 4,735,018	I38F	probably damaging	Het
Fto	A	T	8: 91,401,890		probably benign	Het
Gcnt4	G	T	13: 96,946,510	V105L	probably benign	Het
Gm10644	A	G	8: 83,933,581	L45S	possibly damaging	Het
Gm7275	A	T	16: 48,073,769		noncoding transcript	Het
Gm7579	T	C	7: 142,212,375	S173P	unknown	Het
Hspb8	T	A	5: 116,409,473	D150V	probably damaging	Het
Ifitm1	T	C	7: 140,968,453		probably benign	Het
Ifnl2	T	C	7: 28,509,331	T99A	possibly damaging	Het
Ints4	T	C	7: 97,517,718	L577P	probably damaging	Het
Jph4	T	C	14: 55,114,010	E183G	possibly damaging	Het
Loxhd1	T	A	18: 77,383,830		probably null	Het
Mug1	G	A	6: 121,849,897		probably null	Het
Nlrp2	C	A	7: 5,317,630	C836F	probably damaging	Het
Nup210l	G	T	3: 90,132,309		probably benign	Het
Olfr18	A	G	9: 20,314,056	L288S	probably benign	Het
Olfr555	A	T	7: 102,659,465	I215F	probably damaging	Het
Optn	C	T	2: 5,024,115	G526R	probably damaging	Het
Phykpl	A	G	11: 51,586,675	E98G	probably benign	Het
Pikfyve	A	G	1: 65,264,399	N1648D	probably benign	Het
Plppr5	A	T	3: 117,671,932	R277S	probably benign	Het
Ppp1r36	T	A	12: 76,427,903	F86L	probably benign	Het
Pqlc2	C	T	4: 139,300,299	S244N	possibly damaging	Het
Ptgis	A	T	2: 167,214,833	L278Q	probably damaging	Het
Rasa2	A	T	9: 96,606,176	F90Y	probably damaging	Het
Setd3	T	C	12: 108,107,579	K480E	probably benign	Het
Snx2	T	C	18: 53,212,911	F389L	probably benign	Het
Sulf2	G	A	2: 166,089,199	T296M	probably benign	Het
Supt16	A	T	14: 52,181,157	H214Q	probably damaging	Het
Tbx4	A	T	11: 85,898,530	M12L	probably benign	Het
Tlk1	A	T	2: 70,745,565		probably null	Het
Tmprss7	C	T	16: 45,680,638	V267M	probably benign	Het
Tmub2	G	A	11: 102,288,348	R291H	probably damaging	Het
Trpm2	A	T	10: 77,947,988	V217E	probably damaging	Het
Try10	T	A	6: 41,354,220	V10E	probably benign	Het
Ttn	A	G	2: 76,765,882	V20229A	probably benign	Het
Ttn	A	C	2: 76,778,194		probably null	Het
Uhrf1bp1	T	C	17: 27,893,294		probably null	Het
Usf2	T	A	7: 30,955,179	M199L	possibly damaging	Het
Usp37	A	T	1: 74,495,710	S26T	possibly damaging	Het
Vrk1	G	C	12: 106,058,625	Q253H	probably benign	Het
Wdr72	A	T	9: 74,157,252		probably null	Het
Xrra1	T	C	7: 99,876,242	F123L	probably damaging	Het
Zfhx3	T	C	8: 108,946,623	I1435T	probably damaging	Het
Zfp712	T	A	13: 67,040,813	H550L	probably damaging	Het

Other mutations in Gpatch8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00577:Gpatch8	APN	11	102478878	missense	probably damaging	1.00
IGL00590:Gpatch8	APN	11	102480549	missense	unknown
IGL00835:Gpatch8	APN	11	102478549	missense	probably damaging	1.00
IGL00971:Gpatch8	APN	11	102479917	missense	unknown
IGL01395:Gpatch8	APN	11	102480708	missense	unknown
IGL02386:Gpatch8	APN	11	102508157	missense	unknown
IGL02476:Gpatch8	APN	11	102478591	missense	probably damaging	1.00
IGL02809:Gpatch8	APN	11	102487590	missense	unknown
IGL02985:Gpatch8	APN	11	102481510	missense	unknown
IGL03013:Gpatch8	APN	11	102508197	missense	unknown
R0464:Gpatch8	UTSW	11	102480886	missense	unknown
R0710:Gpatch8	UTSW	11	102481933	missense	unknown
R0734:Gpatch8	UTSW	11	102481400	missense	unknown
R1458:Gpatch8	UTSW	11	102481229	missense	unknown
R1919:Gpatch8	UTSW	11	102508142	critical splice donor site	probably null
R2007:Gpatch8	UTSW	11	102500831	missense	unknown
R2495:Gpatch8	UTSW	11	102478481	missense	probably damaging	1.00
R2881:Gpatch8	UTSW	11	102479917	missense	unknown
R2939:Gpatch8	UTSW	11	102508184	missense	unknown
R4672:Gpatch8	UTSW	11	102478958	missense	probably damaging	1.00
R4903:Gpatch8	UTSW	11	102480133	missense	unknown
R4931:Gpatch8	UTSW	11	102481224	missense	unknown
R5230:Gpatch8	UTSW	11	102479578	missense	probably damaging	1.00
R5288:Gpatch8	UTSW	11	102508227	intron	probably null
R5384:Gpatch8	UTSW	11	102508227	intron	probably null
R5386:Gpatch8	UTSW	11	102508227	intron	probably null
R5564:Gpatch8	UTSW	11	102538285	missense	unknown
R5668:Gpatch8	UTSW	11	102500867	missense	unknown
R5954:Gpatch8	UTSW	11	102480941	missense	unknown
R5966:Gpatch8	UTSW	11	102480232	missense	unknown
R6018:Gpatch8	UTSW	11	102480915	missense	unknown
R6176:Gpatch8	UTSW	11	102487524	missense	unknown
R6388:Gpatch8	UTSW	11	102478488	missense	probably damaging	1.00
Z1088:Gpatch8	UTSW	11	102480945	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTACTACAGCCTTGCGGCTTGG -3'
(R):5'- CAACAGTGGTGCAAGTGCTGTTTC -3'

Sequencing Primer
(F):5'- AGATTACCAGTGCCATCAGTATCTC -3'
(R):5'- GCAAGTGCTGTTTCTTCTTGTG -3'

Posted On

2013-05-09